Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure

• DOI: 10.3389/fimmu.2021.754029
• Publication Date: 2021-10-14T09:23:55Z
• Authors: Gianluca Dell’Orso; Alice Grossi; Federica Penco; Roberta Caorsi; Elena Palmisani; Paola Terranova; Francesca Schena; Michela Lupia; Erica Ricci; Shana Montalto; Filomena Pierri; Isabella Ceccherini; Francesca Fioredda; Carlo Dufour; Marco Gattorno; Maurizio Miano
• Keywords: Immune Dysregulation; Bone marrow failure; Adenosine deaminase deficiency

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, such as vasculitis, inflammation, and hematologic manifestations. Some associations features can mimic autoimmune lymphoproliferative syndrome (ALPS). We report case female patient who fulfilled the 2009 National Institute Health revised criteria for ALPS received delayed diagnosis DADA2. During her childhood, she suffered from hemolytic anemia, immune thrombocytopenia, chronic lymphoproliferation, which partially responded to multiple lines treatments were followed, at 25 years age, by pulmonary embolism, septic shock, bone marrow failure myelodysplastic evolution. The died progression multiorgan failure. Two previously unreported variants gene ADA2/CECR1 found through next-generation sequencing analysis, pathogenic role was demonstrated functional study. A single somatic STAT3 mutation also found. Clinical phenotypes encompassing dysregulation should be evaluated early stage diagnostic work-up extended molecular evaluation. correct genetic may lead precision medicine approach consisting use targeted or hematopoietic stem cell transplantation.